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Clinical presentation of patients with mutations in moderate penetrance genes: a case series
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Morrissette, Audrey L.. Clinical presentation of patients with mutations in moderate penetrance genes: a case series. Retrieved from https://doi.org/doi:10.7282/t3-k9bq-qw58

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TitleClinical presentation of patients with mutations in moderate penetrance genes: a case series
NameMorrissette, Audrey L. (author); Joines, Jessica (chair); Heiman, Gary (internal member); Vig, Hetal (internal member); Rutgers University; School of Graduate Studies
Date Created2019
Other Date2019-05 (degree)
SubjectMicrobiology and Molecular Genetics, Germ cells, Cancer -- Genetic aspects
Extent1 online resource (iii, 42 pages) : illustrations
DescriptionAlthough there is evidence in the literature of a connection between germline mutations in moderate penetrance genes and breast and/or ovarian cancer susceptibility, there is much to be discovered about genotype-phenotype correlations and cancer spectrums. This case series adds to the descriptive literature regarding clinical presentation and family history in patients with germline mutations in moderate penetrance breast and/or ovarian cancer genes. Eleven patients were included in this case series who were identified to have a pathogenic or likely pathogenic variant, in a moderate penetrance breast and/or ovarian cancer gene. Genes included ATM (n = 4), BARD1 (n = 1), CHEK2 (n = 2), PALB2 (n = 2), and RAD51C (n = 2). Results from this case series illustrate areas for future research and add to the existing knowledge regarding phenotype seen in patients who harbor pathogenic variants in moderate penetrance genes.
NoteM.S.
NoteIncludes bibliographical references
Genretheses, ETD graduate
Persistent URLhttps://doi.org/doi:10.7282/t3-k9bq-qw58
LanguageEnglish
CollectionSchool of Graduate Studies Electronic Theses and Dissertations
Organization NameRutgers, The State University of New Jersey
RightsThe author owns the copyright to this work.
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